Rare Disease Library

Congenital symblepharon

Congenital syphilis

Mother-to-child transmission of syphilis · MTCT of syphilis

Congenital temporomandibular joint ankylosis

Congenital trismus

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

Congenital toxoplasmosis

Toxoplasma embryofetopathy · Toxoplasma embryopathy

Congenital tracheomalacia

Congenital major airway collapse

Congenital trochlear nerve palsy

Congenital superior oblique palsy · Congenital CNIV palsy

Congenital urachal anomaly

Congenital vertical talus

Congenital convex foot · Congenital convex pes valgus

Hemophilia A

Congenital Factor VIII deficiency · Congenital F8 deficiency

Hemophilia B

Congenital F9 deficiency · Christmas disease

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

Isolated growth hormone deficiency type IA

Congenital IGHD type IA · Congenital isolated GH deficiency type IA

Isolated growth hormone deficiency type IB

Congenital IGHD type IB · Congenital isolated GH deficiency type IB

Isolated growth hormone deficiency type II

Congenital IGHD type II · Congenital isolated GH deficiency type II

Isolated growth hormone deficiency type III

Congenital IGHD type III · Congenital isolated GH deficiency type III

Non-acquired combined pituitary hormone deficiency

Congenital combined pituitary hormone deficiency · Congenital hypopituitarism

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

OBSOLETE: Congenital neuronal ceroid lipofuscinosis

OBSOLETE: Congenital NCL

Partial pancreatic agenesis

Congenital pancreatic agenesis · Partial agenesis of the pancreas

Peripheral congenital arteriovenous fistula

Peripheral congenital AVF

Peters anomaly

Peters congenital glaucoma

Primary congenital hypothyroidism

Primary familial polycythemia

Congenital erythrocytosis due to erythropoietin receptor mutation · Congenital polycythemia due to erythropoietin receptor mutation

Primary syringomyelia

Congenital syringomyelia

Proboscis lateralis

Congenital tubular nose

Tritanopia

Blue colour blindness · Congenital tritanopia